{
    "disease_id": "DOID:0060765",
    "recommended_name": {
        "id": "DOID:0060765",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060765",
        "name": "autosomal dominant Robinow syndrome 2",
        "description": "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0060765",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060765",
            "name": "DRS2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "autosomal dominant Robinow syndrome 2",
            "description": "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene."
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "autosomal dominant Robinow syndrome caused by mutation in DVL1",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "Robinow syndrome, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "DRS2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "DVL1 autosomal dominant Robinow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "Robinow syndrome, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "Robinow syndrome, autosomal dominant 2; DRS2",
            "description": ""
        },
        {
            "id": "MONDO:0014591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014591",
            "name": "autosomal dominant Robinow syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:616331",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616331",
            "name": "Robinow syndrome, autosomal dominant 2",
            "description": "Robinow syndrome, autosomal dominant 2"
        }
    ]
}